Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.R659W
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GRIN1

NM_007327.4:p.R659W

Associated Papers

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Brock S et al.

Journal of Medical Genetics, 2023

From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor.

Amin JB et al.

The Journal of Physiology, 2021

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE et al.

Brain : a Journal of Neurology, 2018

Polymicrogyria and GRIN1 mutations: altered connections, altered excitability.

Crino PB

Brain : a Journal of Neurology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."